{"Name":"X-linked central congenital hypothyroidism with late-onset testicular enlargement","DiseaseID__c":"GARD:0017499","id":17499,"encodedName":"x-linked-central-congenital-hypothyroidism-with-late-onset-testicular-enlargement","IsDeleted":false,"Disease_Name_Full__c":"X-linked central congenital hypothyroidism with late-onset testicular enlargement","Xref_IDs__c":"C130989; C3550963; DOID:0111140; MEDGEN:763877; MONDO:0010475; OMIM:300888; ORPHA:329235","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010475","Disease_Description__c":"An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.","GARD_Name__c":"X-linked central congenital hypothyroidism with late-onset testicular enlargement","GARD_Synonym__c":"central hypothyroidism and testicular enlargement; chte; hypothyroidism central and testicular enlargement; hypothyroidism, central, and testicular enlargement; hypothyroidism, central, and testicular enlargement, x-linked recessive; hypothyroidism, central, with testicular enlargement; igsf1 deficiency syndrome; immunoglobulin superfamily member 1 deficiency syndrome; x-linked central congenital hypothyroidism with late-onset macroorchidism","Curated_Disease_Description_Source__c":"ORPHA:329235","Curated_Disease_Description__c":"X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:329235","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010475","ORPHANET_ID__c":"ORPHA:329235","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotiroidismo congénito central ligado al cromosoma x con agrandamiento testicular de inicio tardío","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipotiroidismo congénito central ligado al cromosoma x con agrandamiento testicular de inicio tardío","Spanish_GARD_Synonym__c":"hipotiroidismo congénito central ligado al cromosoma x con macroorquidismo de inicio tardío; síndrome de deficiencia de igsf1","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.","Curated_Disease_Description_Source__c":"ORPHA:329235","GARD_Synonym__c":"central hypothyroidism and testicular enlargement; chte; hypothyroidism central and testicular enlargement; hypothyroidism, central, and testicular enlargement; hypothyroidism, central, and testicular enlargement, x-linked recessive; hypothyroidism, central, with testicular enlargement; igsf1 deficiency syndrome; immunoglobulin superfamily member 1 deficiency syndrome; x-linked central congenital hypothyroidism with late-onset macroorchidism","Name":"X-linked central congenital hypothyroidism with late-onset testicular enlargemen","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:329235"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329235"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3550963","Source__c":"C3550963","Xref__c":"C3550963"},{"URL__c":"https://www.orpha.net/en/disease/detail/329235","Source__c":"C3550963; MONDO:0010475","Xref__c":"ORPHA:329235"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111140","Source__c":"MONDO:0010475","Xref__c":"DOID:0111140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=763877","Source__c":"C3550963","Xref__c":"MEDGEN:763877"},{"URL__c":"https://www.omim.org/entry/300888","Source__c":"C3550963; MONDO:0010475; ORPHA:329235","Xref__c":"OMIM:300888"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C130989","Source__c":"C3550963; MONDO:0010475","Xref__c":"C130989"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010475","Source__c":"GARD:0017499","Xref__c":"MONDO:0010475"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGSF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300888","Feature__r":{"HPO_Description__c":"A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033082","HPO_Name__c":"Reduced TSH response to thyrotrophin-releasing hormone stimulation test","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300888","Feature__r":{"HPO_Description__c":"Increased body weight with a body mass index of 25-29.9 kg per square meter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025502","HPO_Name__c":"Overweight","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300888","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008202","HPO_Synonym__c":"Prolactin deficiency","HPO_Name__c":"Reduced circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033075","HPO_Synonym__c":"Inappropriately normal TSH","HPO_Name__c":"Inappropriately normal thyroid-stimulating hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["central hypothyroidism and testicular enlargement"," chte"," hypothyroidism central and testicular enlargement"," hypothyroidism, central, and testicular enlargement"," hypothyroidism, central, and testicular enlargement, x-linked recessive"," hypothyroidism, central, with testicular enlargement"," igsf1 deficiency syndrome"," immunoglobulin superfamily member 1 deficiency syndrome"," x-linked central congenital hypothyroidism with late-onset macroorchidism"]}